Lesch Nyhan Syndrome: 6 Clinical Trials

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6

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Condition(s):AMPD3, OMIM*102772, AMP Deaminase Deficiency; AK1, OMIM *103000, Adenylate Kinase Deficiency; AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency; TPMT, OMIM *187680, Thoipurines, Poor Metabolism of; IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11; APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency; HPRT1, OMIM *308000 Lesch-Nyhan Disease; XDH, OMIM *607633, Xanthinuria Type 1; SLC2A9, OMIM *606142 Hypouricemia; SLC22A12, OMIM *607096 Hypouricemia; PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease; PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity; AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia; ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35; ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency; PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency; ADA2, OMIM *607575,Sneddon Syndrome; VAIHS; CAD, *1140120, Developmental and Epileptic Encephalopathy; UPB1, OMIM *606673, Beta-ureidopropionase Deficiency; DPYS, OMIM *613326, Dihydropyrimidinase Deficiency; DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency; DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis); UMPS, OMIM *613891, Orotic Aciduria; NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency; UNG, OMIM *191525, Hyper-IgM Syndrome 5; AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2; Purine-Pyrimidine Metabolism; Metabolic DiseaseLast Updated:February 9, 2024Recruiting

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